Canonical Allele Identifier: PA2580334047
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2435311
ClinVar RCV Id: RCV003130365
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005600.1:p.Phe709Leu
CA381167606
NM_005609.4:c.2127C>G
CA381167608
NM_005609.4:c.2127C>A
CA381167618
NM_005609.4:c.2125T>C