ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA153073
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129221
ClinVar RCV Id:
RCV000117216
RCV000948165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Gly1190Ser
CA153072
NM_005334.3:c.3568G>A