ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645457521
Gene: SHH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430943
ClinVar RCV Id:
RCV000495992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000184.1:p.Ala391Thr
CA370144830
NM_000193.4:c.1171G>A