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: PA2580267245

Gene: PYGL HGNC NCBI

Linked Data

ClinVar Variation Id: 1899167

ClinVar RCV Id: RCV002575330

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002854.3:p.Met714Ile	CA7183221 NM_002863.5:c.2142G>A CA389682027 NM_002863.5:c.2142G>T CA389682028 NM_002863.5:c.2142G>C