ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096146
Gene: ANKH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5198
ClinVar RCV Id:
RCV000005508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_473368.1:p.Pro5Leu
CA117324
NM_054027.6:c.14C>T