ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499271456
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1209782
ClinVar RCV Id:
RCV001579116
RCV003331189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Thr488Ile
CA381175079
NM_005609.4:c.1463C>T