ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580280969
Gene: PMM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004148982
ClinVar Variation:
2304874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002667.2:p.Asp107Val
CA411726793
NM_002676.3:c.320A>T