ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828763919
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240998
ClinVar RCV Id:
RCV000520376
RCV001172521
RCV001088077
RCV002327141
RCV001820749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Gly1467Val
CA1713705
NM_001378454.1:c.4400G>T