ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096157
Gene: ANKH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5199
ClinVar RCV Id:
RCV000005509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_473368.1:p.Pro5Thr
CA117325
NM_054027.6:c.13C>A