ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356301
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000206576
RCV001545516
RCV002317731
RCV002494519
RCV003313057
ClinVar Variation:
219686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Asn1721Ser
CA350599
NM_000267.3:c.5162A>G