ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828763840
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459867
ClinVar RCV Id:
RCV000526065
RCV001375572
RCV001172518
RCV001565361
RCV002330845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Val1408Ile
CA1713661
NM_001378454.1:c.4222G>A