Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573161898

Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494194

ClinVar RCV Id: RCV002012822

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Arg338His	CA371893297 NM_000127.3:c.1013G>A