ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345699
Gene: PYGM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000128553
ClinVar Variation:
139609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Phe710del
CA345698
NM_005609.4:c.2128_2130del