ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741921060
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2988251
ClinVar RCV Id:
RCV003844434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Gln1210Arg
CA415122556
NM_005334.3:c.3629A>G