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Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000490711.1:p.Asp4Asn
ENST00000638075.1:c.[10G>A;15T>A]

ENST00000638075.1:c.[10G>A;15T>C]

ENST00000638075.1:c.[10G>A;15T>G]

ENST00000638075.1:c.[10G>A;16T=]

ENST00000638075.1:c.[10G>A;18C>T]

ENST00000638075.1:c.[10G>A;19A=]

ENST00000638075.1:c.[10G>A;21T>A]

ENST00000638075.1:c.[10G>A;21T>C]

ENST00000638075.1:c.[10G>A;21T>G]

ENST00000638075.1:c.[10G>A;21T=]

ENST00000638075.1:c.[10G>A;23A=]

ENST00000638075.1:c.[10G>A;24A>G]

ENST00000638075.1:c.[10G>A;25C=]

ENST00000638075.1:c.[10G>A;25C>T;27C>A]

ENST00000638075.1:c.[10G>A;25C>T;27C>G]

ENST00000638075.1:c.[10G>A;27C>A]

ENST00000638075.1:c.[10G>A;27C>G]

ENST00000638075.1:c.[10G>A;27C>T]

ENST00000638075.1:c.[10G>A;28C>A]

ENST00000638075.1:c.[10G>A;28C=]

ENST00000638075.1:c.[10G>A;29G=]

ENST00000638075.1:c.[10G>A;30A>C]

ENST00000638075.1:c.[10G>A;30A>G]

ENST00000638075.1:c.[10G>A;30A>T]

ENST00000638075.1:c.[10G>A;33A=]

ENST00000638075.1:c.[10G>A;33A>G]