ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217641
Gene: NEFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66733
ClinVar RCV Id:
RCV000057185
RCV000625210
RCV001699028
RCV001781391
RCV002496749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066554.2:p.Pro615Leu
CA217640
NM_021076.4:c.1844C>T