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ClinGen Allele Registry
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Canonical Allele Identifier:
CA013466
Community Standard Title: NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
Gene: MYH7
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23422190G>A , CM000676.2:g.23422190G>A
GRCh38
NC_000014.8:g.23891399G>A , CM000676.1:g.23891399G>A
GRCh37
NC_000014.7:g.22961239G>A
NCBI36
NG_007884.1:g.18472C>T , LRG_384:g.18472C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_000257.4:c.3235C>T
MANE Select
NP_000248.2:p.Arg1079Trp
ENST00000355349.4:c.3235C>T
MANE Select
ENSP00000347507.3:p.Arg1079Trp
NM_000257.3:c.3235C>T
NP_000248.2:p.Arg1079Trp
ENST00000355349.3:c.3235C>T
ENSP00000347507.3:p.Arg1079Trp
XM_017021340.1:c.3235C>T
XP_016876829.1:p.Arg1079Trp
XR_245686.3:n.3341C>T
Search 100 bp 5'
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