ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826001860
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000313797
RCV000522784
RCV002229955
ClinVar Variation:
305277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Arg205Trp
CA6080079
NM_001164716.1:c.613C>T