ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828765395
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553138
ClinVar RCV Id:
RCV000668521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ser2773del
CA1714444
NM_001378454.1:c.8318_8320del