ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826001965
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000675637
RCV001079321
RCV003937552
ClinVar Variation:
193681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Asn325Tyr
CA239269
NM_001164716.1:c.973A>T